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Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.

Journal of Alzheimer's disease : JAD - 1 Jan 2017

N'Songo Aurelie, Carrasquillo Minerva M, Wang Xue, Nguyen Thuy, Asmann Yan, Younkin Steven G, Allen Mariet, Duara Ranjan, Custo Maria T Greig, Graff-Radford Neill, Ertekin-Taner Nilüfer

Abstract excerpt

We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population. Whole-exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among...

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Source

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Identifiers

PMID: 28106563
DOI: 10.3233/JAD-161185
PMCID: PMC6774612

Genes

PSEN1
PSEN2
APP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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